ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955322
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41699
ClinVar RCV Id:
RCV000034612
RCV001080486
RCV001017939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Arg233His
CA008318
NM_001162427.2:c.698G>A